Institute of Child Health, Great Ormond Street Hospital for Children NHS Trust, Clinical and Molecular Genetics, 30 Guildford Street, London WC1N 6EH, UK.
Expert Opin Biol Ther. 2012 Jun;12 Suppl 1:S119-26. doi: 10.1517/14712598.2012.666522. Epub 2012 Apr 16.
Fetal sex determination has traditionally been performed in pregnancies at risk of sex-linked genetic conditions by analysis of chorionic villi or amniocytes following invasive tests. The development of noninvasive prenatal diagnosis (NIPD) using cell-free fetal DNA in maternal plasma has allowed women to have accurate information about fetal sex early in pregnancy without the risk of miscarriage.
In the UK, NIPD for fetal sex determination has been offered on a research basis since 2003. Formal approval and regulation through national bodies is essential to ensure standardized laboratory services, appropriate funding and equity of access for service users. Here we describe the process of formal commissioning that has been supported by a multifaceted approach to service evaluation, including appraisal of analytical and clinical validity, clinical utility and economic costs together with an exploration of service users' and providers' attitudes, preferences and information needs.
Implementation strategies that reach beyond the assessment of laboratory test parameters to consider psychosocial and economic issues have been crucial in bringing NIPD for fetal sex determination into routine practice. Ongoing audit and monitoring of service delivery will ensure a high standard of care is maintained.
传统上，通过对绒毛或羊水细胞进行有创检测，可在有性连锁遗传疾病风险的妊娠中进行胎儿性别鉴定。利用母体血浆中的游离胎儿 DNA 进行的非侵入性产前诊断 (NIPD) 的发展，使女性能够在怀孕早期获得有关胎儿性别的准确信息，而不会有流产的风险。
在英国，自 2003 年以来，NIPD 已用于胎儿性别鉴定的研究。通过国家机构的正式批准和监管对于确保标准化的实验室服务、适当的资金和服务使用者的平等准入至关重要。在这里，我们描述了正式委托的过程，该过程得到了多方面的服务评估方法的支持，包括分析和临床有效性、临床实用性和经济成本的评估，以及对服务使用者和提供者的态度、偏好和信息需求的探索。
实施策略超越了对实验室测试参数的评估，考虑到了心理社会和经济问题，这对于将胎儿性别鉴定的 NIPD 纳入常规实践至关重要。对服务提供的持续审核和监测将确保维持高标准的护理。
